Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family

DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We fou...

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Bibliographic Details
Published inJournal of neurogenetics Vol. 22; no. 1; pp. 93 - 101
Main Authors Fenollar-Cortés, M., Gallego-Merlo, J., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Ayuso, C.
Format Journal Article
LanguageEnglish
Published England Informa UK Ltd 01.01.2008
Taylor & Francis
Subjects
Complex genic rearrangement
Dystrophin - genetics
Female
Gene Duplication
Heterozygote
Humans
Male
MLPA
Models, Genetic
Molecular Probe Techniques
Muscular Dystrophy, Duchenne - genetics
Pedigree
Polymerase Chain Reaction - methods
Unequal crossover
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Summary:DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0167-7063
1563-5260
DOI:10.1080/01677060701686184